Search results: Your are viewing genes of CV:PheWAS.

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Gene ID Symbol Synonyms Official Full Name Location SZ group ? Functional group ?
100129583FAM47E-family with sequence similarity 47 member E4q21.1CV:PGCnp
CV:PheWAS
100631383FAM47E-STBD1-FAM47E-STBD1 readthrough4qCV:PGCnp
CV:PheWAS
10144FAM13AARHGAP48 | FAM13A1family with sequence similarity 13 member A4q22.1CV:GWAScat
CV:PGCnp
CV:PheWAS
Ascano FMRP targets
10228STX6-syntaxin 61q25.3CV:PGCnp
CV:PheWAS
DEG:Sanders_2013
INTRACELLULAR TRAFFICKING
10584COLEC10CLL1collectin subfamily member 108q24.12CV:PGCnp
CV:PheWAS
11030RBPMSHERMESRNA binding protein with multiple splicing8p12CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
GSMA_IIA
GSMA_IIE
Network
11073TOPBP1TOP2BP1topoisomerase (DNA) II binding protein 13q22.1CV:PGCnp
CV:PheWAS
11181TREHTRE | TREAtrehalase11q23.3CV:PGCnp
CV:PheWAS
GSMA_I
113510HELQHEL308helicase, POLQ-like4q21.23CV:PGCnp
CV:PheWAS
114884OSBPL10ORP10 | OSBP9oxysterol binding protein like 103p22.3CV:PGCnp
CV:PheWAS
GSMA_I
116028RMI2BLAP18 | C16orf75RecQ mediated genome instability 216p13.13CV:PGCnp
CV:PheWAS
123041SLC24A4AI2A5 | NCKX4 | SHEP6 | SLC24A2solute carrier family 24 member 414q32.12CV:PGCnp
CV:PheWAS
1235CCR6BN-1 | C-C CKR-6 | CC-CKR-6 | CCR-6 | CD196 | CKR-L3 | CKRL3 | CMKBR6 | DCR2 | DRY6 | GPR29 | GPRCY4 | STRL22C-C motif chemokine receptor 66q27CV:PGCnp
CV:PheWAS
123970C16orf78-chromosome 16 open reading frame 7816q12.1CV:PGCnp
CV:PheWAS
GSMA_IIE
140685ZBTB46BTBD4 | BZEL | RINZF | ZNF340 | dJ583P15.7 | dJ583P15.8zinc finger and BTB domain containing 4620q13.33CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
140733MACROD2C20orf133MACRO domain containing 220p12.1CV:GWASdb
CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
GSMA_I
PMID:cooccur
145741C2CD4AFAM148A | NLF1C2 calcium-dependent domain containing 4A15q22.2CV:PGCnp
CV:PheWAS
145858C15orf32-chromosome 15 open reading frame 3215q26.1CV:PGCnp
CV:PheWAS
PMID:cooccur
146722CD300LFCD300f | CLM-1 | CLM1 | IREM-1 | IREM1 | IgSF13 | LMIR3 | NKIRCD300 molecule like family member f17q25.1CV:PheWAS
Expression
1470CST2-cystatin SA20p11.21CV:PGCnp
CV:PheWAS
1473CST5-cystatin D20p11.21CV:GWASdb
CV:PGCnp
CV:PheWAS
148867SLC30A7ZNT7 | ZnT-7 | ZnTL2solute carrier family 30 member 71p21.2CV:PGCnp
CV:PheWAS
ION BALANCE
150962PUS10CCDC139 | DOBIpseudouridylate synthase 102p16.1CV:PGCnp
CV:PheWAS
1543CYP1A1AHH | AHRR | CP11 | CYP1 | CYPIA1 | P1-450 | P450-C | P450DXcytochrome P450 family 1 subfamily A member 115q24.1CV:PGCnp
CV:PheWAS
PMID:cooccur
1544CYP1A2CP12 | P3-450 | P450(PA)cytochrome P450 family 1 subfamily A member 215q24.1Association
CV:PGCnp
CV:PheWAS
GR_COR
GR_Ng
GR_WM
PMID:cooccur
157807CLVS1CRALBPL | RLBP1L1clavesin 18q12.3CV:PGCnp
CV:PheWAS
1588CYP19A1ARO | ARO1 | CPV1 | CYAR | CYP19 | CYPXIX | P-450AROMcytochrome P450 family 19 subfamily A member 115q21.1CV:PGCnp
CV:PheWAS
1656DDX6HLR2 | P54 | RCKDEAD-box helicase 611q23.3CV:PGCnp
CV:PheWAS
GSMA_I
1738DLDDLDD | DLDH | E3 | GCSL | LAD | PHE3dihydrolipoamide dehydrogenase7q31-q32CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
PMID:cooccur
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_mitochondria
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
1811SLC26A3CLD | DRAsolute carrier family 26 member 37q31CV:PGCnp
CV:PheWAS
2044EPHA5CEK7 | EHK-1 | EHK1 | EK7 | HEK7 | TYRO4EPH receptor A54q13.1CV:PGCnp
CV:PheWAS
2205FCER1AFCE1A | FcERIFc fragment of IgE receptor Ia1q23CV:PGCnp
CV:PheWAS
GO_Annotation
GSMA_I
GSMA_IIA
220963SLC16A9C10orf36 | MCT9solute carrier family 16 member 910q21.2CV:GWASdb
CV:PGCnp
CV:PheWAS
2266FGG-fibrinogen gamma chain4q28CV:PGCnp
CV:PheWAS
GO_Annotation
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.humanPSD
22871NLGN1NL1neuroligin 13q26.31CV:GWASdb
CV:PGCnp
CV:PheWAS
GO_Annotation
PMID:cooccur
CELL ADHESION AND TRANSSYNAPTIC SIGNALING
G2Cdb.humanPSD
G2Cdb.humanPSP
Potential synaptic genes
23040MYT1LMRD39 | NZF1 | ZC2HC4Bmyelin transcription factor 1 like2p25.3CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
GO_Annotation
PMID:cooccur
CompositeSet
Darnell FMRP targets
23127COLGALT2C1orf17 | GLT25D2collagen beta(1-O)galactosyltransferase 21q25CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
23187PHLDB1LL5Apleckstrin homology like domain family B member 111q23.3CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
DNM:Fromer_2014
GSMA_I
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
Darnell FMRP targets
23231SEL1L3Sel-1L3SEL1L family member 34p15.2CV:PGCnp
CV:PheWAS
23236PLCB1EIEE12 | PI-PLC | PLC-154 | PLC-I | PLC-beta-1 | PLC154 | PLCB1A | PLCB1Bphospholipase C beta 120p12CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
DMG:Nishioka_2013
GSMA_I
Network
PMID:cooccur
CANABINOID
INTRACELLULAR SIGNAL TRANSDUCTION
METABOTROPIC GLUTAMATE RECEPTOR
SEROTONIN
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.human_mGluR5
G2Cdb.humanNRC
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Ascano FMRP targets
Potential synaptic genes
23335WDR7TRAGWD repeat domain 718q21.31CV:PGCnp
CV:PheWAS
GO_Annotation
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
254827NAALADL2-N-acetylated alpha-linked acidic dipeptidase-like 23q26.31CV:GWASdb
CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
256130TMEM196-transmembrane protein 1967p21.1CV:PGCnp
CV:PheWAS
25893TRIM58BIA2tripartite motif containing 581q44CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
25897RNF19ARNF19ring finger protein 19A, RBR E3 ubiquitin protein ligase8q22CV:PGCnp
CV:PheWAS
26122EPC2EPC-LIKEenhancer of polycomb homolog 22q23.1CV:PGC128
CV:PGCnp
CV:PheWAS
GSMA_I
GSMA_IIA
2615LRRC32D11S833E | GARPleucine rich repeat containing 3211q13.5-q14CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
285755PPIL6PPIase | RSPH12 | bA425D10.6 | dJ919F19.1peptidylprolyl isomerase like 66q21CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
2918GRM8GLUR8 | GPRC1H | MGLUR8 | mGlu8glutamate receptor, metabotropic 87q31.3-q32.1Association
CV:GWASdb
CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
GO_Annotation
PMID:cooccur
GPCR SIGNALLING
Potential synaptic genes
29951PDZRN4LNX4 | SAMCAP3LPDZ domain containing ring finger 412q12CV:PGCnp
CV:PheWAS
326624RAB37-RAB37, member RAS oncogene family17q25.1CV:PheWAS
DMG:Wockner_2014
G2Cdb.humanNRC
G2Cdb.humanPSP
3383ICAM1BB2 | CD54 | P3.58intercellular adhesion molecule 119p13.2CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
DNM:McCarthy_2014
338645LUZP2KFSP2566 | PRO6246leucine zipper protein 211p14.3CV:GWASdb
CV:PGCnp
CV:PheWAS
PMID:cooccur
339210C17orf67-chromosome 17 open reading frame 6717q22CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
3416IDEINSULYSINinsulin degrading enzyme10q23-q25CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
PMID:cooccur
343171OR2W3OR2W3P | OR2W8P | OST718olfactory receptor family 2 subfamily W member 31q44CV:PheWAS
354KLK3APS | KLK2A1 | PSA | hK3kallikrein related peptidase 319q13.41CV:PGCnp
CV:PheWAS
GO_Annotation
3543IGLL114.1 | AGM2 | CD179b | IGL1 | IGL5 | IGLJ14.1 | IGLL | IGO | IGVPB | VPREB2immunoglobulin lambda like polypeptide 122q11.23CV:GWASdb
CV:PGCnp
CV:PheWAS
GSMA_I
3613IMPA2-inositol(myo)-1(or 4)-monophosphatase 218p11.2Association
CV:PGCnp
CV:PheWAS
PMID:cooccur
3621ING1p24ING1c | p33 | p33ING1 | p33ING1b | p47 | p47ING1ainhibitor of growth family member 113q34CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
3658IREB2ACO3 | IRP2 | IRP2ADiron responsive element binding protein 215q25.1CV:PGCnp
CV:PheWAS
3692EIF6CAB | EIF3A | ITGB4BP | b(2)gcn | eIF-6 | p27(BBP) | p27BBPeukaryotic translation initiation factor 620q12CV:PheWAS
Network
3784KCNQ1ATFB1 | ATFB3 | JLNS1 | KCNA8 | KCNA9 | KVLQT1 | Kv1.9 | Kv7.1 | LQT | LQT1 | RWS | SQT2 | WRSpotassium voltage-gated channel subfamily Q member 111p15.5CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
PMID:cooccur
3800KIF5CCDCBM2 | KINN | NKHC | NKHC-2 | NKHC2kinesin family member 5C2q23.1CV:GWAScat
CV:GWASdb
CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
GO_Annotation
GSMA_I
GSMA_IIA
Network
PMID:cooccur
STRUCTURAL PLASTICITY
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
CompositeSet
Darnell FMRP targets
Potential synaptic genes
3832KIF11EG5 | HKSP | KNSL1 | MCLMR | TRIP5kinesin family member 1110q24.1CV:PGCnp
CV:PheWAS
388125C2CD4BFAM148B | NLF2C2 calcium-dependent domain containing 4B15q22.2CV:GWASdb
CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
389421LIN28BCSDD2lin-28 homolog B6q21CV:PGCnp
CV:PheWAS
4016LOXL1LOL | LOXLlysyl oxidase like 115q22CV:PGCnp
CV:PheWAS
4023LPLHDLCQ11 | LIPDlipoprotein lipase8p22CV:GWASdb
CV:PGCnp
CV:PheWAS
Expression
GO_Annotation
GR_Ng
GSMA_I
GSMA_IIA
GSMA_IIE
PMID:cooccur
4026LPP-LIM domain containing preferred translocation partner in lipoma3q28CV:GWASdb
CV:PGCnp
CV:PheWAS
PMID:cooccur
4137MAPTDDPAC | FTDP-17 | MAPTL | MSTD | MTBT1 | MTBT2 | PPND | PPP1R103 | TAUmicrotubule associated protein tau17q21.1CV:PGCnp
CV:PheWAS
GO_Annotation
Network
PMID:cooccur
STRUCTURAL PLASTICITY
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Potential synaptic genes
473REREARG | ARP | ATN1L | DNB1arginine-glutamic acid dipeptide (RE) repeats1p36.23CV:GWAScat
CV:GWASdb
CV:PGC128
CV:PGCnp
CV:PheWAS
DMG:vanEijk_2014
DMG:Wockner_2014
CompositeSet
Darnell FMRP targets
4982TNFRSF11BOCIF | OPG | PDB5 | TR1tumor necrosis factor receptor superfamily member 11b8q24CV:PGCnp
CV:PheWAS
51030TVP23BCGI-148 | FAM18B | FAM18B1 | NPD008 | YDR084Ctrans-golgi network vesicle protein 23 homolog B (S. cerevisiae)17p11.2CV:PGCnp
CV:PheWAS
51199NINSCKL7ninein14q22.1CV:GWASdb
CV:PGCnp
CV:PheWAS
5144PDE4DACRDYS2 | DPDE3 | HSPDE4D | PDE43 | PDE4DN2 | STRK1phosphodiesterase 4D5q12CV:GWAScat
CV:GWASdb
CV:PGCnp
CV:PheWAS
PMID:cooccur
G2Cdb.humanPSD
G2Cdb.humanPSP
5156PDGFRACD140A | GAS9 | PDGFR-2 | PDGFR2 | RHEPDGFRAplatelet derived growth factor receptor alpha4q12CV:GWASdb
CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
5205ATP8B1ATPIC | BRIC | FIC1 | ICP1 | PFIC | PFIC1ATPase phospholipid transporting 8B118q21.31CV:PGCnp
CV:PheWAS
5311PKD2APKD2 | PC2 | PKD4 | Pc-2 | TRPP2polycystin 2, transient receptor potential cation channel4q22.1CV:PGCnp
CV:PheWAS
53833IL20RBDIRS1 | FNDC6 | IL-20R2interleukin 20 receptor subunit beta3q22.3CV:PGCnp
CV:PheWAS
53919SLCO1C1OATP-F | OATP1 | OATP14 | OATP1C1 | OATPF | OATPRP5 | SLC21A14solute carrier organic anion transporter family member 1C112p12.2CV:PGCnp
CV:PheWAS
53981CPSF2CPSF100cleavage and polyadenylation specific factor 214q31.1CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
54535CCHCR1C6orf18 | HCR | SBPcoiled-coil alpha-helical rod protein 16p21.3CV:PGCnp
CV:PheWAS
GSMA_I
Ascano FMRP targets
54899PXKMONaKAPX domain containing serine/threonine kinase like3p14.3CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
GO_Annotation
55118CRTAC1ASPIC | ASPIC1 | CEP-68cartilage acidic protein 110q22CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
55245UQCC1BFZB | C20orf44 | CBP3 | UQCCubiquinol-cytochrome c reductase complex assembly factor 120q11.22CV:PGCnp
CV:PheWAS
55504TNFRSF19TAJ | TAJ-alpha | TRADE | TROYtumor necrosis factor receptor superfamily member 1913q12.11-q12.3CV:PGCnp
CV:PheWAS
55600ITLN1HL-1 | HL1 | INTL | ITLN | LFR | hIntL | omentinintelectin 11q21.3CV:PGCnp
CV:PheWAS
GO_Annotation
GSMA_I
GSMA_IIA
55691FRMD4ACCAFCA | FRMD4 | bA295P9.4FERM domain containing 4A10p13CV:PGCnp
CV:PheWAS
DMG:Wockner_2014
5619PRM1CT94.1 | P1protamine 116p13.2CV:PGCnp
CV:PheWAS
5636PRPSAP2PAP41phosphoribosyl pyrophosphate synthetase-associated protein 217p11.2-p12CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
56946EMSYC11orf30 | GL002EMSY, BRCA2 interacting transcriptional repressor11q13.5CV:PGCnp
CV:PheWAS
56987BBXARTC1 | HBP2 | HSPC339 | MDS001bobby sox homolog (Drosophila)3q13.1CV:GWASdb
CV:PGCnp
CV:PheWAS
DEG:Zhao_2015
Expression
GSMA_IIA
GSMA_IIE
57619SHROOM3APXL3 | MSTP013 | SHRM | ShrmLshroom family member 34q21.1CV:PGCnp
CV:PheWAS
Ascano FMRP targets
57706DENND1AFAM31A | KIAA1608DENN domain containing 1A9q33.3CV:PGCnp
CV:PheWAS
5789PTPRDHPTP | HPTPD | HPTPDELTA | PTPD | RPTPDELTAprotein tyrosine phosphatase, receptor type D9p23-p24.3CV:GWASdb
CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
DMG:Wockner_2014
PMID:cooccur
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-CONSENSUS
G2Cdb.human_BAYES-COLLINS-HUMAN-PSD-FULL
G2Cdb.human_BAYES-COLLINS-MOUSE-PSD-CONSENSUS
G2Cdb.humanPSD
G2Cdb.humanPSP
CompositeSet
Darnell FMRP targets
Potential synaptic genes
5966RELC-Relv-rel avian reticuloendotheliosis viral oncogene homolog2p13-p12CV:GWASdb
CV:PGCnp
CV:PheWAS
Network
PMID:cooccur
60485SAV1SAV | WW45 | WWP4salvador family WW domain containing protein 114q13-q23CV:PGCnp
CV:PheWAS
6258RXRGNR2B3 | RXRCretinoid X receptor gamma1q22-q23CV:PGCnp
CV:PheWAS
DMG:Jaffe_2016
6311ATXN2ASL13 | ATX2 | SCA2 | TNRC13ataxin 212q24.1CV:PGCnp
CV:PheWAS
Network
PMID:cooccur